Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

BackgroundMinichromosome maintenance complex component 3 associated protein (MCM3AP) is a gene in which mutations can result in autosomal recessive peripheral neuropathy with or without impaired intellectual development. The MCM3AP genotype-phenotype correlation and prognosis remain unclear. The aim...

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Bibliographic Details
Main Authors: Chan Liu, Qingfeng Xie, Quan Hu, Bingwu Xiang, Kaiyi Zhao, Xiang Chen, Feixia Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-08-01
Series:Frontiers in Genetics
Subjects:
peripheral neuropathy
intellectual disability
MCM3AP
GANP
biallelic mutations
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1405644/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1405644/full

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